Q118E (p.Gln118Glu) variant of MMAB (Q96EY8)
Q118E (p.Gln118Glu) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
Q118E (p.Gln118Glu) variant details
- p.Gln118Glu
- ExAC rs776280248
- gnomAD rs776280248
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.39
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available